Quality of Life Measurements in Epidermolysis Bullosa: Tools for Clinical Research and Patient Care

Quality of life (QOL) evaluation in epidermolysis bullosa (EB) has important applications in clinical management, patient advocacy, clinical research, and the development of new treatments. Several new quantitative and qualitative QOL measurement tools were developed recently, providing insight into the impact EB has on individuals and their family members. Selection of the most appropriate QOL tool for patients who have EB depends on not only the type of information required but also the general or specific cohort being examined. EB-specific quantitative tools possess the highest level of content validity and statistical accuracy. However, generic dermatologic tools may also be appropriate in some circumstances. Overall, QOL evaluation in EB is still a developing area of research that may help improve patient management and assess emerging treatment modalities for their efficacy in improving the QOL of patients with EB.

Quality of life (QOL) is an abstract, multidimensional construct reflecting the physical, psychological, and social aspects of an individual’s well-being. Commonly, QOL is equated with burden of disease; however, they have subtle differences that have important consequences in the clinical setting. The World Health Organization (WHO) defines health as “total physical, mental and social well-being,” with this holistic view very similar to the traditional view of QOL. Burden of disease, however, is regarded as a measurement of the negative impact a disease or condition has on an individual.

Therefore, the holistic nature of QOL measurements (as opposed to merely the burden of disease) provides a more accurate representation of the overall physical, psychological, and social state of an individual. This holistic approach to medicine is extremely important in dermatology, because many dermatologic conditions have not only physical but also pronounced psychological and social consequences. Epidermolysis bullosa (EB) is a prime example of a dermatologic condition with profound impacts across all aspects of health. In dermatologic medicine, assessing a patient’s overall health also involves an informal evaluation of their QOL.

Although the use of formal QOL measurement tools in dermatology is somewhat recent, the dermatologist’s concern for the overall welfare of the patient is not. The development of new, formal, clinically useful QOL tools is driven by the expectations of patients and the wider medical community regarding therapeutic modalities. Dermatologists strive to provide timely, effective treatments with minimal adverse effects while minimizing social and economic impacts on individuals and the community. As stated by Halioua and colleagues, “effectiveness alone is no longer sufficient.” QOL tools allow dermatologists to quantitatively measure the dimensions of the WHO’s definition of health, and use these measurements in several different areas, including health advocacy, clinical research, and evaluation of new therapeutic modalities.

Why measure quality of life?

Although QOL measurement is justifiable in its own right, results from QOL studies can be used several different ways. QOL evaluation simply can be seen as a formalized version of the holistic care that countless dermatologists provide daily. The critical difference is that most QOL measurement tools are developed using a rigorous process and statistically validated, thereby ensuring that the results gleaned by these tools are accurate and reliable when compared across cohorts, or between different intervals.

QOL evaluation can have great uses in assessing the efficacy of new therapeutic modalities, particularly in EB. These therapies may range from new forms of dressings to more recent developments, such as cellular therapies. Because EB can have such profound clinical manifestations (eg, in generalized severe recessive dystrophic [RDEB]), even if the clinical outcome of a particular novel therapy may indicate improvement but the overall change in QOL is negligible or in fact decreases (eg, from the invasiveness of the procedure), patients may not consider continuation of this therapy as the most beneficial course of action.

Because EB is a rare condition, many patient advocacy and support groups, such as DebRA (Dystrophic EB Research Association), are challenged with the task of obtaining funding, both for patient support and research. Quantitative evaluation of the QOL of individuals who have EB compared with other chronic skin conditions, such as psoriasis or atopic eczema, may support gathering private or public sector funding for continuing treatments and research support. From a health economics perspective, the same quantitative data can be used to evaluate or determine resource allocation (ie, money) based on measurements such as the Disability Adjusted Life Years (DALY).

Because of the chronic nature of EB, many adult patients who have widespread blistering tend to underreport symptoms and exhibit a high level of resilience. This behavior can lead to more inexperienced clinicians potentially undertreating these patients, with potentially disastrous consequences, particularly for patients who have RDEB exhibiting locally recurrent squamous cell carcinoma or regional metastases.

This issue is particularly pertinent in palliative settings, and QOL evaluation, including assessments of pain levels, can be of great value. However, even among the general EB population, the restrictions on social interaction and increased incidence of depression may cause patients (particularly adolescents) to be shy and introverted. When this situation occurs, or when parents and caregivers tend to speak for older patients, QOL scores and other measurement tools can help elucidate a patient’s perception of pain, depression, or other concerns. Eliminating this “caregiver-bias” can be especially useful in building rapport with adolescent patients.